Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.G117D
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SCN1B

NM_001037.5:p.G117D

Associated Papers

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

Crowgey EL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel

Genomic diagnostics within a medically underserved population: efficacy and implications.

Strauss KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."